Mutagenetix > Incidental Mutation

Incidental Mutation 'R2273:Ciapin1'

242651

Institutional Source

Beutler Lab

Gene Symbol

Ciapin1

Ensembl Gene

ENSMUSG00000031781

Gene Name

cytokine induced apoptosis inhibitor 1

Synonyms

anamorsin, 2810413N20Rik

MMRRC Submission

040273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95546432-95564986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95558415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 99 (V99E)

Ref Sequence

ENSEMBL: ENSMUSP00000125451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034233] [ENSMUST00000161792] [ENSMUST00000162538]

AlphaFold

Q8WTY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034233
AA Change: V99E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034233
Gene: ENSMUSG00000031781
AA Change: V99E

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	18	95	4.7e-6	PFAM
Pfam:CIAPIN1	228	270	8e-8	PFAM
Pfam:CIAPIN1	262	301	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160301

Predicted Effect

unknown
Transcript: ENSMUST00000161762
AA Change: V25E

SMART Domains

Protein: ENSMUSP00000123794
Gene: ENSMUSG00000031781
AA Change: V25E

Domain	Start	End	E-Value	Type
PDB:2LD4\|A	1	171	9e-95	PDB
SCOP:d1khha_	8	146	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161792

SMART Domains

Protein: ENSMUSP00000125474
Gene: ENSMUSG00000031781

Domain	Start	End	E-Value	Type
PDB:2LD4\|A	10	76	3e-31	PDB
Pfam:CIAPIN1	125	158	1.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162120

Predicted Effect

probably damaging
Transcript: ENSMUST00000162538
AA Change: V99E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125451
Gene: ENSMUSG00000031781
AA Change: V99E

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	18	95	4.7e-6	PFAM
Pfam:CIAPIN1	228	270	8e-8	PFAM
Pfam:CIAPIN1	262	301	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos with erythropoietic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
Atp11b	A	G	3: 35,882,762 (GRCm39)	I606V	probably benign	Het
Atp6v1h	T	A	1: 5,187,699 (GRCm39)	D222E	probably damaging	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Cdc42bpb	C	T	12: 111,268,601 (GRCm39)	E1200K	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfh	C	T	1: 140,030,563 (GRCm39)	V824M	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 131,661,581 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,662,608 (GRCm39)		probably null	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat3	T	C	9: 15,826,558 (GRCm39)	T4465A	probably benign	Het
Fdxacb1	A	G	9: 50,683,321 (GRCm39)	E428G	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hivep2	T	C	10: 14,008,187 (GRCm39)	M1595T	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Ift88	A	G	14: 57,726,393 (GRCm39)	K684E	possibly damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnc1	A	G	7: 46,077,226 (GRCm39)	N343D	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
Lrig1	A	T	6: 94,585,124 (GRCm39)	D840E	probably damaging	Het
Lrrc7	A	G	3: 157,892,696 (GRCm39)	S318P	probably damaging	Het
Map1b	A	C	13: 99,568,592 (GRCm39)	D1376E	unknown	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mrc1	G	A	2: 14,330,183 (GRCm39)	R1264Q	probably damaging	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,109,873 (GRCm39)	F324S	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or5g29	G	T	2: 85,420,932 (GRCm39)	G16V	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb4	C	T	18: 37,441,979 (GRCm39)	L430F	probably damaging	Het
Ptpn2	T	G	18: 67,810,872 (GRCm39)	M256L	probably damaging	Het
Rph3a	C	T	5: 121,111,367 (GRCm39)	R71H	probably damaging	Het
Rrm2b	T	A	15: 37,945,295 (GRCm39)	D148V	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Sult1d1	T	G	5: 87,703,887 (GRCm39)	N266T	probably damaging	Het
Tjp2	G	T	19: 24,090,171 (GRCm39)	H624N	probably benign	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vldlr	A	T	19: 27,225,415 (GRCm39)	T859S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r94	T	A	17: 18,477,593 (GRCm39)	M273L	probably benign	Het
Zc3h6	T	C	2: 128,856,629 (GRCm39)	Y570H	probably benign	Het
Zhx2	A	G	15: 57,686,565 (GRCm39)	S645G	probably benign	Het

Other mutations in Ciapin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0070:Ciapin1	UTSW	8	95,551,847 (GRCm39)	missense	possibly damaging	0.91
R0070:Ciapin1	UTSW	8	95,551,847 (GRCm39)	missense	possibly damaging	0.91
R0218:Ciapin1	UTSW	8	95,554,938 (GRCm39)	missense	probably damaging	0.98
R1980:Ciapin1	UTSW	8	95,559,161 (GRCm39)	missense	probably benign	0.00
R2197:Ciapin1	UTSW	8	95,555,787 (GRCm39)	nonsense	probably null
R4020:Ciapin1	UTSW	8	95,555,814 (GRCm39)	missense	probably damaging	1.00
R5790:Ciapin1	UTSW	8	95,551,811 (GRCm39)	intron	probably benign
R7236:Ciapin1	UTSW	8	95,550,338 (GRCm39)	missense
R8268:Ciapin1	UTSW	8	95,558,511 (GRCm39)	missense	probably benign	0.00
R8979:Ciapin1	UTSW	8	95,549,753 (GRCm39)	missense	probably damaging	1.00
R9114:Ciapin1	UTSW	8	95,558,400 (GRCm39)	critical splice donor site	probably null
R9696:Ciapin1	UTSW	8	95,555,065 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTAGGTCAACCAGAGAGCAC -3'
(R):5'- ATTCTCCTGGGTGATGCCTG -3'

Sequencing Primer
(F):5'- AGAGAGCACATCTTCTCAGCTCTG -3'
(R):5'- CCTGTGGGAGATTGCTTCCCAG -3'

Posted On

2014-10-16